[Congenital pain insensitivity]. / Insensibilidad congénita al dolor.

A case showing multiple lesions that make it very illustrative is reported. Differential diagnosis is made with some other diseases that are similar in some isolated facts. Mention is also made on the pathophysiology of the disease as well as on the necessity of the intercourse of several medicosurgical specialties in the management of these patients. A brief review of the literature is made.

[Lesch-Nyhan syndrome. Report of a case]. / Síndrome de Lesch-Nyhan. Informe de un caso.

A case is reported with a syndrome characterized by mental retardation, choreoathetosis, high levels of uric acid and aggressive, selfmutilation behavior, diagnosed as Lesch-Nyhan's syndrome. The most important features are, its appearance confined only to males, the absence of abnormalities along the prenatal and newborn periods, as well as the progressive impairment in the clinical course of the patient. The presence of high blood levels of uric acid which was controlled with the administration of allopurinol, the anemia, treated with ferrous sulfate and the complete absence of the AGPRT enzyme, were the laboratory findings. The clinical, pathophysiological and biochemical aspects of the treatment were also reviewed, as well as the experiences and findings reported in other series. The authors stress the very low frequency of these cases, the importance of making the diagnosis and the exceptional and eccentricity of the features which are part of the syndrome, such as the bites.

[Mucopolysaccharidosis. Radiological and clinical aspects]. / Mycopolisacaridósis. Aspectos clínicos y radiológicos

These are congenital diseases that may be seen occasionally, both in males as in females with the exception of Hunter's syndrome which is exclusive of the male sex. This possibility should be suspected before a patient with or without mental retardation and bony malformations. It must be kept in mind there is no medical treatment for their relief. However, recent studies have established a cause of effect relationship of metabolic disturbances of cycopolysaccharides and their accumulation in different tissues of the body, amongst them cartilages (chondrocytes), which would be responsible for the corresponding disturbances seen. Bony age was always found to be less than the chronological. Bony malformations may be corrected if disableness is prevented. Mental retardation was not present in every case and heart disease was diagnosed in only one case, although heart catheterism was practiced in 50% of all cases. Since heart lesion is the main cause of death, it should always be investigated. Clinics, x-rays and laboratory should always be the basis of the diagnosis.